| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.116120232G>C | CA127213 | COL10A1,NT5DC1 | c.529+2287G>C (n.529+2287G>C) c.1884C>G (p.Tyr628Ter) c.27+2287G>C | ClinVar dbSNP |
| 6 | g.116120232G= | CA1657093241 | COL10A1,NT5DC1 | c.529+2287G= (n.529+2287G=) c.1884C= (p.Tyr628=) c.27+2287G= | dbSNP |
| 6 | g.116120232G>A | CA451899455 | COL10A1,NT5DC1 | c.529+2287G>A (n.529+2287G>A) c.1884C>T (p.Tyr628=) c.27+2287G>A | dbSNP gnomAD v4 |